Variant report

Variant	rs4294381
Chromosome Location	chr1:224688107-224688108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224622043..224623637-chr1:224687364..224688891,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10753474	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs12566578	1.00[CEU][hapmap];0.94[CHB][hapmap]
rs16847945	0.90[JPT][hapmap]
rs1891243	0.84[CHB][hapmap]
rs4653589	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.91[TSI][hapmap]
rs6665956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs712065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs712066	0.94[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.91[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224679800-224689600	Weak transcription	Pancreas	Pancrea
2	chr1:224682800-224690200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:224685200-224688600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:224685200-224695800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:224685600-224689600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:224686000-224689600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:224686000-224690000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:224686200-224689000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:224686400-224689600	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:224686600-224688400	Weak transcription	Primary T cells from cord blood	blood
11	chr1:224686600-224688400	Enhancers	Dnd41	blood
12	chr1:224686600-224688800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:224686600-224688800	Enhancers	NHLF	lung
14	chr1:224686600-224689600	Weak transcription	Esophagus	oesophagus
15	chr1:224686600-224689800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:224686600-224689800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:224686600-224689800	Weak transcription	Fetal Lung	lung
18	chr1:224686600-224689800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:224686600-224690000	Weak transcription	Aorta	Aorta
20	chr1:224686600-224690000	Weak transcription	Liver	Liver
21	chr1:224686600-224690200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:224686600-224690200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:224686600-224691000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:224686600-224691000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:224686600-224691200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:224686600-224691200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:224686800-224688200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:224686800-224688200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:224686800-224688200	Weak transcription	Thymus	Thymus
30	chr1:224686800-224688400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:224686800-224688400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:224686800-224688400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr1:224686800-224689000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:224686800-224689000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:224686800-224689400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:224686800-224689600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:224686800-224689600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:224686800-224689600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:224686800-224689600	Weak transcription	Colonic Mucosa	Colon
40	chr1:224686800-224689600	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:224686800-224689600	Weak transcription	Gastric	stomach
42	chr1:224686800-224689600	Weak transcription	Left Ventricle	heart
43	chr1:224686800-224689600	Weak transcription	Lung	lung
44	chr1:224686800-224689600	Weak transcription	Right Atrium	heart
45	chr1:224686800-224689600	Weak transcription	Right Ventricle	heart
46	chr1:224686800-224689600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:224686800-224689600	Weak transcription	Stomach Mucosa	stomach
48	chr1:224686800-224689800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:224686800-224690000	Weak transcription	Ovary	ovary
50	chr1:224686800-224690000	Weak transcription	Psoas Muscle	Psoas

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